Evidence map›Paper›PMID 39052257›Full record

ReviewJAMA oncology2024

BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.

Heather H Cheng, Jeffrey W Shevach, Elena Castro, Fergus J Couch, Susan M Domchek, Rosalind A Eeles, Veda N Giri, Michael J Hall, Mary-Claire King, Daniel W Lin and 9 more

Erratum issuedAbstract readReview
In one paragraph

Review in JAMA oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed.

  1. A GermlineIJU case reports · 2026
    Article
  2. Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2026
    Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Observational
  8. Review
  9. Article
  10. Review
  11. Article
  12. Hotspots and future trends of male breast cancer: a global perspective.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Article
  13. Article
  14. Article
  15. Clinical predictors ofFrontiers in oncology · 2026
    Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Heather H ChengClinical Research Division, Fred Hutchinson Cancer Center, Seattle, Washington.
Jeffrey W ShevachDivision of Medical Oncology, Duke University School of Medicine, Durham, North Carolina.
Elena CastroDepartment of Medical Oncology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Fergus J CouchDivision of Experimental Pathology and Laboratory Medicine, Mayo Clinic, Rochester, New York.
Susan M DomchekDepartment of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia.
Rosalind A EelesThe Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom.
Veda N GiriYale School of Medicine and Yale Cancer Center, New Haven, Connecticut.
Michael J HallDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Mary-Claire KingDepartment of Medicine (Medical Genetics) and Department of Genome Sciences, University of Washington, Seattle.
Daniel W LinClinical Research Division, Fred Hutchinson Cancer Center, Seattle, Washington.
Stacy LoebDepartment of Urology and Population Health, New York University School of Medicine, New York.
Todd M MorganDepartment of Urology, University of Michigan, Ann Arbor.
Kenneth OffitClinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York.
Colin C PritchardDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle.
Edward M SchaefferDepartment of Urology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Brittany M SzymaniakDepartment of Urology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Jason L VassyHarvard Medical School at VA Boston Healthcare System, Boston, Massachusetts.
Bryson W KatonaDepartment of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia.
Kara N MaxwellDepartment of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia.

Funding

Translational Bioimaging Core Shared ResourceP30CA015704 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Eric Collisson · 1985 to 2026
$296.4M
TRANSCRIPTOME AND PROTEOME STRATIFICATION OF PROSTATE ADENOCARCINOMA PHENOTYPESP50CA097186 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI PETER S NELSON · 2002 to 2026
$58.1M
The Impact of DNA Damage Repair Abnormalities in Prostate CancerP01CA228696 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI SOLIT, DAVID B. · 2019 to 2024
$8.7M
Resolving the cancer relevance of predisposition gene mutationsR35CA253187 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2020 to 2026
$5.8M
Postdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2M
Pragmatic randomized trial of polygenic risk scoring for common diseases in primary careR35HG010706 · NHGRI · HARVARD MEDICAL SCHOOL · PI VASSY, JASON L · 2019 to 2024
$2.6M
A genotype-phenotype study of tumors from patients with inherited mutations in DNA repair genesK08CA215312 · NCI · UNIVERSITY OF PENNSYLVANIA · PI MAXWELL, KARA N · 2018 to 2022
$924k
Building a shared decision making implementation strategy for the emerging paradigm of precision cancer screeningI01HX003627 · VA · EDITH NOURSE ROGERS MEMORIAL VETERANS HOSPITAL · PI Marla L. Clayman, Jason L Vassy · 2024 to 2026
–
The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS): A pragmatic trial of precision prostate cancer screeningI01CX002635 · VA · VA BOSTON HEALTH CARE SYSTEM · PI Jason L Vassy · 2024 to 2026
–
CSRD VA I01 CX002622CSRD VA I01 CX002635CSRD VA I01 CX002709HSRD VA I01 HX003627NCI NIH HHS K08 CA215312NCI NIH HHS P01 CA228696NCI NIH HHS P30 CA015704NCI NIH HHS P50 CA097186NCI NIH HHS R35 CA253187NHGRI NIH HHS R35 HG010706NHGRI NIH HHS T32 HG009495
6 · The paper itself

Abstract

Importance: Half of all carriers of inherited cancer-predisposing variants in BRCA1 and BRCA2 are male, but the implications for their health are underrecognized compared to female individuals. Germline variants in BRCA1 and BRCA2 (also known as pathogenic or likely pathogenic variants, referred to here as BRCA1/2 PVs) are well known to significantly increase the risk of breast and ovarian cancers in female carriers, and knowledge of BRCA1/2 PVs informs established cancer screening and options for risk reduction. While risks to male carriers of BRCA1/2 PVs are less characterized, there is convincing evidence of increased risk for prostate cancer, pancreatic cancer, and breast cancer in males. There has also been a rapid expansion of US Food and Drug Administration-approved targeted cancer therapies, including poly ADP ribose polymerase (PARP) inhibitors, for breast, pancreatic, and prostate cancers associated with BRCA1/2 PVs. Observations: This narrative review summarized the data that inform cancer risks, targeted cancer therapy options, and guidelines for early cancer detection. It also highlighted areas of emerging research and clinical trial opportunities for male BRCA1/2 PV carriers. These developments, along with the continued relevance to family cancer risk and reproductive options, have informed changes to guideline recommendations for genetic testing and strengthened the case for increased genetic testing for males. Conclusions and Relevance: Despite increasing clinical actionability for male carriers of BRCA1/2 PVs, far fewer males than female individuals undergo cancer genetic testing. Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males. Identifying more male carriers of BRCA1/2 PVs will maximize opportunities for cancer early detection, targeted risk management, and cancer treatment for males, along with facilitating opportunities for risk reduction and prevention in their family members, thereby decreasing the burden of hereditary cancer.

Indexed as

BRCA1 ProteinBRCA2 ProteinGenetic Predisposition to DiseaseBreast Neoplasms, MaleEarly Detection of CancerGenetic TestingGerm-Line MutationHumansMaleNeoplasmsRisk AssessmentRisk FactorsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, human

Identifiers

PMID39052257
PMCPMC12080741

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.